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Results 1 - 5 of 5 for "Microcephaly," growth "deficiency," "seizures," brain malformations
  1. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... severely impaired speech development. Many affected individuals have seizures, movement abnormalities, and an unusually small head size (microcephaly) with a loss of nerve cells in the brain (cerebral atrophy).All individuals with FBXL4-related encephalomyopathic ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  2. Isolated sulfite oxidase deficiency 
    ... of the spine (opisthotonus). Because development of the brain is impaired, ... normal head growth. These facial differences include a relatively long and ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
  3. Distal 18q deletion syndrome 
    ... deletion syndrome include short stature (often due to growth hormone deficiency), weak muscle tone (hypotonia), hearing loss due to ear canals that are narrow (aural stenosis) or absent (aural atresia), and foot abnormalities such as an inward or upward-turning foot ( ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  4. Birth Disorders of the Brain and Spinal Cord From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Brain Malformations/Specifics ... Brain Malformations ... Brain Diseases/Specifics ... Brain Diseases ... Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Genetic ...
    https://www.ninds.nih.gov/.../birth-disorders-brain-and-spinal-cord - National Institutes of Health
  5. DOORS syndrome 
    ... and intellectual disability (previously called mental retardation); and ... feet in DOORS syndrome. Impaired growth of the bones at the tips of the ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics